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<meta name="keywords" content="C0151311, cranial nerve palsies, cranial nerve palsy, cranial nerve paralysis, cranial nerve paresis, disease or syndrome, palsies, cranial nerve, palsy, cranial nerve, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=57717
ConceptID=C0151311
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cranial nerve paralysis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57717</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0151311</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Cranial nerve palsy</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Cranial nerve palsy (73013002)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0006824">HP:0006824</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0002782" target="_blank">MONDO:0002782</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0151311[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=57717">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Cranial nerve paralysis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1671020" ref="tree=MeSH" title="MedGen record for Abnormal cranial nerve physiology">Abnormal cranial nerve physiology</a></span><ul><li><span class="matched_ds">Cranial nerve paralysis</span><ul><li><span class="TLline"><a href="/medgen/1645218" ref="tree=MeSH" title="MedGen record for Abducens nerve palsy">Abducens nerve palsy</a></span></li><li><span class="TLline"><a href="/medgen/1793216" ref="tree=MeSH" title="MedGen record for Cranial Nerve II Palsy">Cranial Nerve II Palsy</a></span></li><li><span class="TLline"><a href="/medgen/5101" ref="tree=MeSH" title="MedGen record for Facial paralysis">Facial paralysis</a></span><ul><li><span class="TLline"><a href="/medgen/859714" ref="tree=MeSH" title="MedGen record for Acquired Facial Nerve Palsy">Acquired Facial Nerve Palsy</a></span></li><li><span class="TLline"><a href="/medgen/581580" ref="tree=MeSH" title="MedGen record for Congenital facial nerve palsy">Congenital facial nerve palsy</a></span></li><li><span class="TLline"><a href="/medgen/858754" ref="tree=MeSH" title="MedGen record for Facial Nerve Palsy Related to Birth">Facial Nerve Palsy Related to Birth</a></span></li><li><span class="TLline"><a href="/medgen/768724" ref="tree=MeSH" title="MedGen record for Facial Nerve Palsy Related to Trauma">Facial Nerve Palsy Related to Trauma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75746" ref="tree=MeSH" title="MedGen record for Fourth cranial nerve palsy">Fourth cranial nerve palsy</a></span></li><li><span class="TLline"><a href="/medgen/1696475" ref="tree=MeSH" title="MedGen record for Glossopharyngeal nerve paralysis">Glossopharyngeal nerve paralysis</a></span></li><li><span class="TLline"><a href="/medgen/154395" ref="tree=MeSH" title="MedGen record for Hypoglossal nerve palsy">Hypoglossal nerve palsy</a></span></li><li><span class="TLline"><a href="/medgen/14459" ref="tree=MeSH" title="MedGen record for Oculomotor nerve palsy">Oculomotor nerve palsy</a></span><ul><li><span class="TLline"><a href="/medgen/1804232" ref="tree=MeSH" title="MedGen record for Congenital oculomotor nerve palsy">Congenital oculomotor nerve palsy</a></span></li><li><span class="TLline"><a href="/medgen/138" ref="tree=MeSH" title="MedGen record for Holmes-Adie syndrome">Holmes-Adie syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1699864" ref="tree=MeSH" title="MedGen record for Palsy of accessory nerve">Palsy of accessory nerve</a></span></li><li><span class="TLline"><a href="/medgen/1704186" ref="tree=MeSH" title="MedGen record for Palsy of vagus nerve">Palsy of vagus nerve</a></span></li><li><span class="TLline"><a href="/medgen/18290" ref="tree=MeSH" title="MedGen record for Progressive bulbar palsy">Progressive bulbar palsy</a></span><ul><li><span class="TLline"><a href="/medgen/163239" ref="tree=MeSH" title="MedGen record for Brown-Vialetto-van Laere syndrome 1">Brown-Vialetto-van Laere syndrome 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/884229" ref="tree=MeSH" title="MedGen record for Trigeminal nerve palsy">Trigeminal nerve palsy</a></span></li><li><span class="TLline"><a href="/medgen/753518" ref="tree=MeSH" title="MedGen record for Vestibulocochlear nerve palsy">Vestibulocochlear nerve palsy</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_3347"><div><strong>Chédiak-Higashi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3347</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C0007965</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, a mild bleeding tendency, and late adolescent- to adult-onset neurologic manifestations (e.g., learning difficulties, peripheral neuropathy, ataxia, and parkinsonism). While present in nearly all individuals with CHS, these clinical findings vary in severity. Of note, all individuals with CHS are at risk of developing neurologic manifestations and hemophagocytic lymphohistiocytosis (HLH). Individuals with severe childhood-onset presentations are considered to have "classic" CHS, whereas individuals with milder adolescent- to adult-onset presentations are considered to have "atypical" CHS. Because of the considerable overlap between classic CHS and atypical CHS, the disorder is best understood as a continuum of severe to milder phenotypes, with the universal feature being the pathognomonic giant granules within leukocytes observed on peripheral blood smear.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3347">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_4150"><div><strong>Dandy-Walker syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4150</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0010964</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dandy-Walker malformation (DWM) is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have impaired intellectual development and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4150">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_95931"><div><strong>Roberts-SC phocomelia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>95931</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0392475</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">ESCO2 spectrum disorder is characterized by mild-to-severe prenatal growth restriction, limb malformations (which can include bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening), hand anomalies (including oligodactyly, thumb aplasia or hypoplasia, and syndactyly), elbow and knee flexion contractures (involving elbows, wrists, knees, ankles, and feet [talipes equinovarus]), and craniofacial abnormalities (which can include bilateral cleft lip and/or cleft palate, micrognathia, widely spaced eyes, exophthalmos, downslanted palpebral fissures, malar flattening, and underdeveloped ala nasi), ear malformation, and corneal opacities. Intellectual disability (ranging from mild to severe) is common. Early mortality is common among severely affected pregnancies and newborns; mildly affected individuals may survive to adulthood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/95931">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_98484"><div><strong>Hyperphosphatasemia tarda</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98484</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0432272</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SOST-related sclerosing bone dysplasias include SOST-related sclerosteosis and SOST-related endosteal hyperostosis, van Buchem type (van Buchem disease), both disorders of progressive bone overgrowth due to increased bone formation. The major clinical features of SOST-related sclerosteosis are progressive skeletal overgrowth, most pronounced in the skull and mandible, and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Facial distortion due to frontal bossing and mandibular overgrowth is seen in nearly all individuals and becomes apparent in early childhood with progression into adulthood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (leading to facial palsy) with other, less common nerve entrapment syndromes including visual loss (2nd cranial nerve), neuralgia or anosmia (5th cranial nerve), and sensorineural hearing loss (8th cranial nerve). In SOST-related sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with SOST-related sclerosteosis into old age is unusual but not unprecedented. The manifestations of van Buchem disease are generally milder than SOST-related sclerosteosis. Stature is typically normal, cranial nerve entrapment of the seventh and eighth cranial nerves are common, and increased intracranial pressure is rare, seen only in severely affected individuals. Individuals with van Buchem disease do not have syndactyly or other digit deformities. Life span appears not to be altered.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98484">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_154259"><div><strong>Neurocutaneous melanocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154259</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0544862</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the brain parenchyma or leptomeninges, which may lead to clinically apparent neurologic signs and symptoms, such as seizures. Other neurologic abnormalities, including hydrocephalus, arachnoid cysts, tumors, and syringomyelia, may also occur. The disorder is a rare but severe manifestation of congenital melanocytic nevus syndrome (CMNS; 137550). Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma. The incidence of neurologic involvement, development of malignant melanoma, and death is significantly associated with the projected adult size of the largest congenital melanocytic nevus, particularly those greater than 40 cm (summary by Kinsler et al., 2008; Kinsler et al., 2013).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/154259">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_163239"><div><strong>Brown-Vialetto-van Laere syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163239</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0796274</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS; 105400). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010).&#13; Genetic Heterogeneity of Brown-Vialetto-Van Laere Syndrome&#13; See also BVVLS2 (614707), caused by mutation in the SLC52A2 gene (607882) on chromosome 8q.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/163239">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_376708"><div><strong>Autosomal recessive osteopetrosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376708</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1850127</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012).&#13; Genetic Heterogeneity of Autosomal Recessive Osteopetrosis&#13; Other forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (611490), which is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13, and OPTB5 (259720), which is caused by mutation in the OSTM1 gene (607649) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2; 259710) is caused by mutation in the TNFSF11 gene (602642) on chromosome 13q14, an intermediate form (OPTB6; 611497) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7; 612301) is caused by mutation in the TNFRSF11A gene (603499) on chromosome 18q21. Another form of autosomal recessive osteopetrosis (OPTB8; 615085) is caused by mutation in the SNX10 gene (614780) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21. OPTB9 (620366) is caused by mutation in the SLC4A2 gene (109280) on chromosome 7q36.&#13; Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, 607634).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376708">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_340200"><div><strong>Paragangliomas 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340200</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1854336</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck paragangliomas [HNPGLs]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, extra-adrenal sympathetic paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCCs result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas. Additional tumors reported in individuals with hereditary PGL/PCC syndromes include gastrointestinal stromal tumors (GISTs), pulmonary chondromas, and clear cell renal cell carcinoma.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340200">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_343374"><div><strong>Absence deformity of leg-cataract syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343374</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1855523</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343374">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341751"><div><strong>Dandy-Walker malformation-postaxial polydactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341751</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1857351</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A syndromic disorder with the association between Dandy-Walker malformation and postaxial polydactyly as a major feature. The Dandy-Walker malformation has a variable expression and characteristics of a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341751">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_349380"><div><strong>Paragangliomas 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349380</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1861848</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck paragangliomas [HNPGLs]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, extra-adrenal sympathetic paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCCs result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas. Additional tumors reported in individuals with hereditary PGL/PCC syndromes include gastrointestinal stromal tumors (GISTs), pulmonary chondromas, and clear cell renal cell carcinoma.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/349380">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_357076"><div><strong>Paragangliomas 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357076</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1866552</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck paragangliomas [HNPGLs]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, extra-adrenal sympathetic paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCCs result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas. Additional tumors reported in individuals with hereditary PGL/PCC syndromes include gastrointestinal stromal tumors (GISTs), pulmonary chondromas, and clear cell renal cell carcinoma.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/357076">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_383181"><div><strong>Hunter-Macdonald syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383181</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2677745</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/383181">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_488134"><div><strong>Paragangliomas 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488134</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3494181</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck paragangliomas [HNPGLs]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, extra-adrenal sympathetic paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCCs result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas. Additional tumors reported in individuals with hereditary PGL/PCC syndromes include gastrointestinal stromal tumors (GISTs), pulmonary chondromas, and clear cell renal cell carcinoma.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/488134">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_766452"><div><strong>Brown-Vialetto-van Laere syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766452</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3553538</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Brown-Vialetto-Van Laere syndrome-2 (BVVLS2) is an autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency. Some patients may lose independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation (summary by Johnson et al., 2012; Foley et al., 2014).&#13; For discussion of genetic heterogeneity of Brown-Vialetto-Van Laere syndrome, see BVVLS1 (211530).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/766452">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_899166"><div><strong>Paget disease of bone 2, early-onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899166</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4085251</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Paget disease (PDB) is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014).&#13; For a discussion of genetic heterogeneity of Paget disease of bone, see 167250.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/899166">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343374" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absence deformity of leg-cataract syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive osteopetrosis 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163239" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brown-Vialetto-van Laere syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brown-Vialetto-van Laere syndrome 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_3347" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chédiak-Higashi syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341751" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dandy-Walker malformation-postaxial polydactyly syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_4150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dandy-Walker syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383181" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hunter-Macdonald syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98484" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperphosphatasemia tarda</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_154259" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurocutaneous melanocytosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_899166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paget disease of bone 2, early-onset</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_488134" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paragangliomas 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357076" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paragangliomas 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340200" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paragangliomas 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349380" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paragangliomas 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_95931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Roberts-SC phocomelia syndrome</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/38522353">Current management of carotid body tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ozawa H</span><br />
<span class="medgenPMjournal">Auris Nasus Larynx</span>
2024 Jun;51(3):501-506.
Epub 2024 Mar 23
doi: 10.1016/j.anl.2024.01.007.
<span class="bold">PMID: </span><a href="/pubmed/38522353" target="_blank">38522353</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36528642">Management and long-term comorbidities of patients with necrotizing otitis externa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Arslan IB,
Pekcevik Y,
Cukurova I</span><br />
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
2023 Jun;280(6):2755-2761.
Epub 2022 Dec 18
doi: 10.1007/s00405-022-07784-y.
<span class="bold">PMID: </span><a href="/pubmed/36528642" target="_blank">36528642</a><a href="/pmc/articles/PMC9759449" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/980404">The diagnosis and treatment of IVth cranial nerve paralysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gobin MH</span><br />
<span class="medgenPMjournal">Ophthalmologica</span>
1976;173(3-4):292-5.
doi: 10.1159/000307913.
<span class="bold">PMID: </span><a href="/pubmed/980404" target="_blank">980404</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cranial%20nerve%20paralysis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (10)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/38522353">Current management of carotid body tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ozawa H</span><br />
<span class="medgenPMjournal">Auris Nasus Larynx</span>
2024 Jun;51(3):501-506.
Epub 2024 Mar 23
doi: 10.1016/j.anl.2024.01.007.
<span class="bold">PMID: </span><a href="/pubmed/38522353" target="_blank">38522353</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36959147">Bell Palsy: Facts and Current Research Perspectives.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rajangam J,
Lakshmanan AP,
Rao KU,
Jayashree D,
Radhakrishnan R,
Roshitha B,
Sivanandy P,
Sravani MJ,
Pravalika KH</span><br />
<span class="medgenPMjournal">CNS Neurol Disord Drug Targets</span>
2024;23(2):203-214.
doi: 10.2174/1871527322666230321120618.
<span class="bold">PMID: </span><a href="/pubmed/36959147" target="_blank">36959147</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35178777">Paragangliomas of the head and neck.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Valero C,
Ganly I</span><br />
<span class="medgenPMjournal">J Oral Pathol Med</span>
2022 Nov;51(10):897-903.
Epub 2022 Feb 23
doi: 10.1111/jop.13286.
<span class="bold">PMID: </span><a href="/pubmed/35178777" target="_blank">35178777</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33090900">Causes of Vocal Fold Paralysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang HW,
Lu CC,
Chao PZ,
Lee FP</span><br />
<span class="medgenPMjournal">Ear Nose Throat J</span>
2022 Aug;101(7):NP294-NP298.
Epub 2020 Oct 22
doi: 10.1177/0145561320965212.
<span class="bold">PMID: </span><a href="/pubmed/33090900" target="_blank">33090900</a></div>
<div class="nl"><a target="_blank" href="/pubmed/114069">Craniocervical chordomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Harwick RD,
Miller AS</span><br />
<span class="medgenPMjournal">Am J Surg</span>
1979 Oct;138(4):512-6.
doi: 10.1016/0002-9610(79)90410-0.
<span class="bold">PMID: </span><a href="/pubmed/114069" target="_blank">114069</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cranial%20nerve%20paralysis%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (39)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39369199">Neurobartonelloses: emerging from obscurity!</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bush JC,
Robveille C,
Maggi RG,
Breitschwerdt EB</span><br />
<span class="medgenPMjournal">Parasit Vectors</span>
2024 Oct 5;17(1):416.
doi: 10.1186/s13071-024-06491-3.
<span class="bold">PMID: </span><a href="/pubmed/39369199" target="_blank">39369199</a><a href="/pmc/articles/PMC11452993" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36959147">Bell Palsy: Facts and Current Research Perspectives.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rajangam J,
Lakshmanan AP,
Rao KU,
Jayashree D,
Radhakrishnan R,
Roshitha B,
Sivanandy P,
Sravani MJ,
Pravalika KH</span><br />
<span class="medgenPMjournal">CNS Neurol Disord Drug Targets</span>
2024;23(2):203-214.
doi: 10.2174/1871527322666230321120618.
<span class="bold">PMID: </span><a href="/pubmed/36959147" target="_blank">36959147</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35178777">Paragangliomas of the head and neck.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Valero C,
Ganly I</span><br />
<span class="medgenPMjournal">J Oral Pathol Med</span>
2022 Nov;51(10):897-903.
Epub 2022 Feb 23
doi: 10.1111/jop.13286.
<span class="bold">PMID: </span><a href="/pubmed/35178777" target="_blank">35178777</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32445717">Facial Nerve Palsy: Clinical Practice and Cognitive Errors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">George E,
Richie MB,
Glastonbury CM</span><br />
<span class="medgenPMjournal">Am J Med</span>
2020 Sep;133(9):1039-1044.
Epub 2020 May 20
doi: 10.1016/j.amjmed.2020.04.023.
<span class="bold">PMID: </span><a href="/pubmed/32445717" target="_blank">32445717</a></div>
<div class="nl"><a target="_blank" href="/pubmed/980404">The diagnosis and treatment of IVth cranial nerve paralysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gobin MH</span><br />
<span class="medgenPMjournal">Ophthalmologica</span>
1976;173(3-4):292-5.
doi: 10.1159/000307913.
<span class="bold">PMID: </span><a href="/pubmed/980404" target="_blank">980404</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cranial%20nerve%20paralysis%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (56)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/36959147">Bell Palsy: Facts and Current Research Perspectives.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rajangam J,
Lakshmanan AP,
Rao KU,
Jayashree D,
Radhakrishnan R,
Roshitha B,
Sivanandy P,
Sravani MJ,
Pravalika KH</span><br />
<span class="medgenPMjournal">CNS Neurol Disord Drug Targets</span>
2024;23(2):203-214.
doi: 10.2174/1871527322666230321120618.
<span class="bold">PMID: </span><a href="/pubmed/36959147" target="_blank">36959147</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33090900">Causes of Vocal Fold Paralysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang HW,
Lu CC,
Chao PZ,
Lee FP</span><br />
<span class="medgenPMjournal">Ear Nose Throat J</span>
2022 Aug;101(7):NP294-NP298.
Epub 2020 Oct 22
doi: 10.1177/0145561320965212.
<span class="bold">PMID: </span><a href="/pubmed/33090900" target="_blank">33090900</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22663926">Papillary thyroid carcinoma with metastasis to the temporooccipital skull: a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kutluhan A,
Yalçıner G,
Bozdemir K,
Ozdemir E,
Tarlak B,
Bilgen AS</span><br />
<span class="medgenPMjournal">Kulak Burun Bogaz Ihtis Derg</span>
2012 May-Jun;22(3):160-3.
doi: 10.5606/kbbihtisas.2012.030.
<span class="bold">PMID: </span><a href="/pubmed/22663926" target="_blank">22663926</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7978135">Twelfth cranial nerve paralysis following use of a laryngeal mask airway.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">King C,
Street MK</span><br />
<span class="medgenPMjournal">Anaesthesia</span>
1994 Sep;49(9):786-7.
doi: 10.1111/j.1365-2044.1994.tb04452.x.
<span class="bold">PMID: </span><a href="/pubmed/7978135" target="_blank">7978135</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5725068">Cranial nerve paralysis after spinal anesthesia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Robles R</span><br />
<span class="medgenPMjournal">Northwest Med</span>
1968 Sep;67(9):845-7.
<span class="bold">PMID: </span><a href="/pubmed/5725068" target="_blank">5725068</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cranial%20nerve%20paralysis%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (35)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38522353">Current management of carotid body tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ozawa H</span><br />
<span class="medgenPMjournal">Auris Nasus Larynx</span>
2024 Jun;51(3):501-506.
Epub 2024 Mar 23
doi: 10.1016/j.anl.2024.01.007.
<span class="bold">PMID: </span><a href="/pubmed/38522353" target="_blank">38522353</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22663926">Papillary thyroid carcinoma with metastasis to the temporooccipital skull: a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kutluhan A,
Yalçıner G,
Bozdemir K,
Ozdemir E,
Tarlak B,
Bilgen AS</span><br />
<span class="medgenPMjournal">Kulak Burun Bogaz Ihtis Derg</span>
2012 May-Jun;22(3):160-3.
doi: 10.5606/kbbihtisas.2012.030.
<span class="bold">PMID: </span><a href="/pubmed/22663926" target="_blank">22663926</a></div>
<div class="nl"><a target="_blank" href="/pubmed/114069">Craniocervical chordomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Harwick RD,
Miller AS</span><br />
<span class="medgenPMjournal">Am J Surg</span>
1979 Oct;138(4):512-6.
doi: 10.1016/0002-9610(79)90410-0.
<span class="bold">PMID: </span><a href="/pubmed/114069" target="_blank">114069</a></div>
<div class="nl"><a target="_blank" href="/pubmed/13494083">Incidence of cranial nerve paralysis in poliomyelitis in relation to presence or absence of tonsils. II. In a largely rural area.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">TOP FH</span><br />
<span class="medgenPMjournal">Pediatrics</span>
1958 Jan;21(1):106-11.
<span class="bold">PMID: </span><a href="/pubmed/13494083" target="_blank">13494083</a></div>
<div class="nl"><a target="_blank" href="/pubmed/13494082">Incidence of cranial nerve paralysis in poliomyelitis in relation to presence or absence of tonsils. I. In a metropolitan area.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">TOP FH</span><br />
<span class="medgenPMjournal">Pediatrics</span>
1958 Jan;21(1):94-105.
<span class="bold">PMID: </span><a href="/pubmed/13494082" target="_blank">13494082</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cranial%20nerve%20paralysis%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (40)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38522353">Current management of carotid body tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ozawa H</span><br />
<span class="medgenPMjournal">Auris Nasus Larynx</span>
2024 Jun;51(3):501-506.
Epub 2024 Mar 23
doi: 10.1016/j.anl.2024.01.007.
<span class="bold">PMID: </span><a href="/pubmed/38522353" target="_blank">38522353</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36582116">Temporary 6TH cranial nerve paralysis after accidental durotomy in endoscopic disc surgery.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Avci İ,
Gürsoy T,
Paksoy K,
Şentürk S,
Yaman O,
Özer AF</span><br />
<span class="medgenPMjournal">Asian J Endosc Surg</span>
2023 Jul;16(3):514-517.
Epub 2022 Dec 29
doi: 10.1111/ases.13157.
<span class="bold">PMID: </span><a href="/pubmed/36582116" target="_blank">36582116</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35178777">Paragangliomas of the head and neck.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Valero C,
Ganly I</span><br />
<span class="medgenPMjournal">J Oral Pathol Med</span>
2022 Nov;51(10):897-903.
Epub 2022 Feb 23
doi: 10.1111/jop.13286.
<span class="bold">PMID: </span><a href="/pubmed/35178777" target="_blank">35178777</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25868553">Maxillofacial gunshot wounds.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maurin O,
de Régloix S,
Dubourdieu S,
Lefort H,
Boizat S,
Houze B,
Culoma J,
Burlaton G,
Tourtier JP</span><br />
<span class="medgenPMjournal">Prehosp Disaster Med</span>
2015 Jun;30(3):316-9.
Epub 2015 Apr 14
doi: 10.1017/S1049023X1500463X.
<span class="bold">PMID: </span><a href="/pubmed/25868553" target="_blank">25868553</a></div>
<div class="nl"><a target="_blank" href="/pubmed/13234019">Cranial nerve paralysis in herpes zoster encephalitis of childhood; clinical and electroencephalographic observations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">SCHMIDT RP,
ROSEMAN E,
STKIGMAN AJ</span><br />
<span class="medgenPMjournal">J Pediatr</span>
1955 Feb;46(2):215-8.
doi: 10.1016/s0022-3476(55)80214-4.
<span class="bold">PMID: </span><a href="/pubmed/13234019" target="_blank">13234019</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cranial%20nerve%20paralysis%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (22)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/17063320">Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: report of 6 cases and systematic review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lachenal F,
Cotton F,
Desmurs-Clavel H,
Haroche J,
Taillia H,
Magy N,
Hamidou M,
Salvatierra J,
Piette JC,
Vital-Durand D,
Rousset H</span><br />
<span class="medgenPMjournal">J Neurol</span>
2006 Oct;253(10):1267-77.
Epub 2006 Oct 24
doi: 10.1007/s00415-006-0160-9.
<span class="bold">PMID: </span><a href="/pubmed/17063320" target="_blank">17063320</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cranial%20nerve%20paralysis%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
</div>
</div></div></div></div></div></div></div>
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<div class="supplemental col three_col last">
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<!-- MedGen supplemental column starts here -->
<div class="rightCol mgCol">
<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
</div>
<div class="portlet mgSection" id="ID_106">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0151311%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (24)</a></li>
<li><a href="/gtr/tests?term=C0151311%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (24)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0151311%5bDISCUI%5d" target="_blank">See all (24)</a></total></li>
</ul></div>
</div>
<div class="portlet mgSection" id="ID_119">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Cranial%20nerve%20paralysis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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